Disease: Usher syndrome, type 2C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 GeneticVariation disease BEFREE We succeeded in identifying the deleterious, novel, and homologous variant, c.6912dupG (p.Leu2305Valfs*4), in the GPR98 gene (NM_032119.3) that contributes to the progression of USH2C. 29890953 2018
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 GeneticVariation disease BEFREE Whole-exome sequencing identified the presence of two novel compound heterozygous mutations in ADGRV1, a known gene responsible for Usher syndrome type IIC. 29883260 2018
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 GeneticVariation disease CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease CLINGEN Targeted exome sequencing identified two novel truncation mutations in GPR98 causing Usher syndrome. 26432996 2016
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 GeneticVariation disease CLINVAR Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa. 26164827 2015
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease CLINGEN USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. 25743181 2015
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease CLINGEN Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. 25406310 2014
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease CLINGEN A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II. 25572244 2014
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease CLINGEN Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells. 23035094 2012
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 GeneticVariation disease UNIPROT Non-USH2A mutations in USH2 patients. 22147658 2012
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease BEFREE GPR98 may have been excluded from systematic investigation in previous studies, and the proportion of patients with USH2C probably underestimated. 19357117 2009
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 GeneticVariation disease BEFREE A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. 19357116 2009
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease CLINGEN Vlgr1 is required for proper stereocilia maturation of cochlear hair cells. 17295842 2007
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease MGD Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. 17567809 2007
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease CLINGEN Mass spectrometry and immunoblotting were used to identify this antigen as the avian ortholog of the very large G-protein-coupled receptor VLGR1, the product of the Usher syndrome USH2C (Mass1) locus. 16775142 2006
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease MGD Mass spectrometry and immunoblotting were used to identify this antigen as the avian ortholog of the very large G-protein-coupled receptor VLGR1, the product of the Usher syndrome USH2C (Mass1) locus. 16775142 2006
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease GENOMICS_ENGLAND Mass spectrometry and immunoblotting were used to identify this antigen as the avian ortholog of the very large G-protein-coupled receptor VLGR1, the product of the Usher syndrome USH2C (Mass1) locus. 16775142 2006
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease MGD Vlgr1 knockout mice show audiogenic seizure susceptibility. 15606908 2005
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 GeneticVariation disease CLINVAR Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 14740321 2004
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease MGD Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice. 15207856 2004
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease CLINGEN Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 14740321 2004
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 GeneticVariation disease UNIPROT Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 14740321 2004
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease GENOMICS_ENGLAND Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. 9734811 1998
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 Biomarker disease GENOMICS_ENGLAND
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		0.940 CausalMutation disease CLINVAR